Dravet syndrome due to an SCN1A mutation is twice as common in the US than previously thought.
West Haven, CT (PRWEB) October 16, 2015
According to new research by Yvonne Wu, MD, MPH, along with Dravet Syndrome Foundation's medical advisory board member, Joseph Sullivan, MD, and their colleagues at the University of California, San Francisco (UCSF), Dravet syndrome (DS) due to an SCN1A mutation is twice as common in the United States than previously thought.
De novo mutations of the gene sodium channel 1α (SCN1A) are the major cause of DS, an infantile epileptic encephalopathy. U.S. incidence of DS has been estimated at 1 in 40,000, but no U.S. epidemiologic studies have been performed since the advent of genetic testing. Genetic testing should be considered in children with two or more prolonged febrile seizures by 1 year of age.
Results of this study were recently published in Pediatrics, establishing a new incidence rate of clinical diagnosis of DS of 1 per 15,700. The study also established the incidence of a de novo SCN1A mutation of 1 per 20,900.
This study was supported by the Dravet Syndrome Foundation of West Haven, Connecticut.
Dr. Yvonne Wu is a child neurologist and epidemiologist at UCSF. Dr. Wu’s research has been funded by the NIH, Thrasher Research Foundation, United Cerebral Palsy Foundation, and the Cerebral Palsy International Research Foundation. She serves on the editorial boards of Pediatric Neurology and the Journal of Child Neurology.
Dr. Joseph Sullivan, a pediatric neurologist and director of the UCSF Pediatric Epilepsy Center, where he specializes in the evaluation and treatment of children with epilepsy, in particular the treatment of refractory epilepsy. Sullivan is a member of the Pediatric Epilepsy Consortium, which brings together pediatric epilepsy centers across the United States to collaborate on various studies in pediatric epilepsy.
References: Wu et al. “Incidence of Dravet Syndrome in a U.S. Population,” Pediatrics, October 5, 2015, pii: peds.2015-1807 (http://pediatrics.aappublications.org/search?fulltext=dravet+syndrome&submit=yes&x=36&y=10)
Dravet Syndrome Foundation, is a nonprofit organization based in CT, dedicated to raising research funds for DS and related epilepsies; increasing awareness of these catastrophic conditions; and providing support to affected individuals and families.
Dravet Syndrome is a catastrophic form of epilepsy that begins in infancy. It is a debilitating, life-long condition. Patients experience frequent seizures, poor seizure control, developmental delays and another associated health issues.